Fundamentals of Genetics (BIO231)

Genetics of Red Hairs

Terms Used in Genetics
Mendelian Genetics
Fundamentals of Genetics (BIO231)
Topics
1. Genetics of Red Hairs
2. Common Terms Used in Genetics
3. Mendelian Genetics
Fundamentals of Genetics (BIO231)
Genetics of Red Hairs
1. Queen Boudica

2. Mary Magdalene

3. Goddess of Venus
(The Birth of Venus) by
Botticelli

4. Queen Elizabeth I
Fundamentals of Genetics (BIO231)
Color of Hairs – Caused by Melanin
Melanin is a pigment produced by the melanocytes, within the
melanosomes, in a reaction catalyzed by tyrosinase during the
conversion of tyrosine into dopa.

Melanin comes in two primary forms:

1. Eumelanin:
which is black or brown,

2. Pheomelanin:
which is red or yellow.
Fundamentals of Genetics (BIO231)
Fundamentals of Genetics (BIO231)
Determining the Hair Color
Two factors determine the hair color of a person

1. The amount of melanin produced

More melanin darker hair
Less melanin lighter hair
2. The relative amounts of eumelanin and
pheomelanin
More eumelanin black or brown hair
More pheomelanin red or blond hair
Fundamentals of Genetics (BIO231)
Benefits of Melanin
Major benefit
Protection against the harmful effects of sunlight

Whereas

People with red hair are usually fair skinned and

particularly susceptible to skin cancer
Fundamentals of Genetics (BIO231)
Inheritance of Red Hair
Has long been a subject of scientific debate
Charles & Gertrude Davenport:
suggested that red hair is recessive to black and brown
Subsequent research contradicted this initial
conclusion:
suggesting dominant mode of inheritance
Controversy lasted for several years
Fundamentals of Genetics (BIO231)
Melanocortin-1 Receptor
1993: Scientists discovered melanocortin-1 receptor while
they were working on fur color in mice

This receptor, when activated

Increases the production of black eumelanin

Decreases the production of red pheomelanin

resulting
in black or brown fur
Fundamentals of Genetics (BIO231)
MC1R Gene in Humans
Located on human chromosome 16


When this gene is mutated in humans,
Red hair results


Most people with red hair carry 2 defective copies
of the MC1R, which means ???--------------------

(as originally proposed by the Davenports back in 1909)
Fundamentals of Genetics (BIO231)
Red Hairs with One Defective Copy of MC1R

From 10% to 20% of red heads possess only a single
mutant copy of MC1R, muddling the recessive
interpretation of red hair


The people with a single mutant copy of the gene
tend to have lighter red hair than those who harbor
two mutant copies
Fundamentals of Genetics (BIO231)
Frequency of Mutations – MC1R

Vary widely among human populations


Ethnic differences in the preponderance of red hair:

Among African and Asian descent, mutations for red hair are
uncommon


~ 40% of the people from the northern part of the UK carry
at least one mutant copy of the gene for red hair
Fundamentals of Genetics (BIO231)
Mendel used Pisum sativum in his studies of heredity
 Fundamentals of Genetics (BIO231)
Mendel’s approach to the study of heredity was
effective for several reasons
• Foremost was his choice of experimental subject,
 the pea plant Pisum sativum
 Which offered clear advantages for genetic investigation
• The plant is easy to cultivate
• Mendel had the monastery garden and greenhouse at his disposal
• Pea plants produce many offspring—their seeds—
• which allowed Mendel to detect meaningful mathematical ratios in
the traits that he observed in the progeny
Fundamentals of Genetics (BIO231)
• The large number of varieties of peas
 that were available to Mendel also was crucial,
 because these varieties differed in various traits and
 were genetically pure
• Mendel was therefore able to begin with plants of variable, known genetic
makeup
 Fundamentals of Genetics (BIO231)
• Much of Mendel’s success can be attributed
• to the seven characteristics that he chose for study
• He avoided characteristics that display a range of
variation;
• Instead, he focused his attention on those that exist in
 two easily differentiated forms,

such as white versus gray seed coats,

round versus wrinkled seeds, and

inflated versus constricted pods
 Fundamentals of Genetics (BIO231)
• Finally, Mendel was successful
 because he adopted an experimental approach and
interpreted his results by using mathematics
• Mendel formulated hypotheses
 based on his initial observations
 then conducted additional crosses to test hypotheses
• He was adept at seeing patterns in detail
 and was patient and thorough, conducting his experiments
for 10 years before attempting to write up his results
 Fundamentals of Genetics (BIO231)
Summary of Important Genetic Terms
• Gene - A genetic factor (region of DNA) that helps determine a characteristic
• Allele - One of two or more alternate forms of a gene
• Locus - Specific place on a chromosome occupied by an allele
• Genotype - Set of alleles possessed by an individual organism
• Heterozygote - An individual organism possessing two different alleles at a
locus
• Homozygote - An individual organism possessing two of the same alleles at
a locus
• Phenotype or Trait - The appearance or manifestation of a character
• Character or Characteristic - An attribute or feature
Fundamentals of Genetics (BIO231)
At each locus, a
diploid organism
possesses two
alleles located
on different
homologous
chromosomes
Fundamentals of Genetics (BIO231)
An Obvious But Important Concept
• Only the alleles of the genotype are inherited
• Although the phenotype is determined, at least to
some extent, by genotype, organisms do not
transmit their phenotypes to the next generation
• The distinction between genotype and phenotype
is one of the most important principles of modern
genetics
 Fundamentals of Genetics (BIO231)
Monohybrid Crosses Reveal the Principle of
Segregation and the Concept of Dominance
• Mendel started with 34 varieties of peas plants
• and spent 2 years selecting those varieties that he would use in his
experiments
• He verified that each variety was pure-breeding (homozygous for each
of the traits that he chose to study)
 by growing the plants for two generations and confirming that all
offspring were the same as their parents
• He then carried out a number of crosses between the different
varieties
Fundamentals of Genetics (BIO231)
Fundamentals of Genetics (BIO231)
• Although peas are normally self-fertilizing,
 Mendel conducted crosses between different plants

by opening the buds before the anthers (male sex organs) were fully
developed,

removing the anthers, and
then dusting the stigma (female sex organs) with pollen from a different


plant’s anthers
• Mendel began by studying monohybrid crosses—
 those between parents that differed in a single characteristic. In one
experiment, Mendel crossed a pure-breeding (homozygous) pea plant for
round seeds with one that was pure-breeding for wrinkled seeds
• This first generation of a cross is the P (parental) generation
Fundamentals of Genetics (BIO231)

Conclusion:
The traits of the parent
plants do not blend.
Although F1 plants
display the phenotype of
one parent, both traits are
passed to F2 progeny in
a 3 : 1 ratio.
 Fundamentals of Genetics (BIO231)
Observing P Generation Progeny
• After crossing the two varieties in the P generation,
• Mendel observed the offspring that resulted from the cross
• In regard to seed characteristics,
 such as seed shape,
 the phenotype develops as soon as the seed matures,

because the seed traits are determined by the newly
formed embryo within the seed
Fundamentals of Genetics (BIO231)
Fundamentals of Genetics (BIO231)
Fundamentals of Genetics (BIO231)
Fundamentals of Genetics (BIO231)
 Fundamentals of Genetics (BIO231)
What Monohybrid Crosses Reveal
First:
 The F1 plants display the phenotype of only one parent
 They must inherit genetic factors from both parents

because they transmit both phenotypes to the F2 generation
 The presence of both round and wrinkled seeds in the F2 could be
explained

only if the F1 plants possessed both round and wrinkled genetic factors
that they had inherited from the P generation
 He concluded that each plant must therefore possess two genetic factors
encoding a character
 Fundamentals of Genetics (BIO231)
Second conclusion
 The two alleles in each plant separate when gametes are
formed, and one allele goes into each gamete
 When two gametes fuse to produce a zygote,

The allele from the male parent unites with the allele from
the female parent to produce the genotype of the
offspring, thus
 Mendel’s F1 plants inherited an R allele from the round-
seeded plant and an r allele from the wrinkled-seeded plant
Fundamentals of Genetics (BIO231)
 However, only the trait encoded by the round allele (R)
was observed in the F1: all the F1 progeny had round
seeds
 Those traits that appeared unchanged in the F1
heterozygous offsprings Mendel called them dominant,
and those traits that disappeared in the F1
heterozygous offsprings he called them recessive
 When dominant and recessive alleles are present
together, the recessive allele is masked, or suppressed
 Fundamentals of Genetics (BIO231)
• Concept of dominance was the third important conclusion
that Mendel derived from his monohybrid crosses
• Mendel’s fourth conclusion was that the two alleles of an
individual plant separate with equal probability into the
gametes
• When plants of the F1 (with genotype Rr) produced
gametes, half of the gametes received the R allele for round
seeds and half received the r allele for wrinkled seeds
• The gametes then paired randomly to produce the
following genotypes in equal proportions among the F2: RR,
 Fundamentals of Genetics (BIO231)
• Because round (R) is dominant over wrinkled (r), there
were three round progeny in the F2 (RR, Rr, rR) for every
one wrinkled progeny (rr) in the F2
• This 3 : 1 ratio of round to wrinkled progeny that Mendel
observed in the F2 could be obtained only if the two
alleles of a genotype separated into the gametes with
equal probability
Fundamentals of Genetics (BIO231)

Comparison of
The Principles
of Segregation
& Independent
Assortment
Fundamentals of Genetics (BIO231)
Fundamentals of Genetics (BIO231)